Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome

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• 作者：Tharangrut Hanprasertpong (1)
  Uiko Hanaoka (1)
  Xia Zhang (1)
  Nobuhiro Mori (1)
  Eisuke Inubashiri (1)
  Kenji Kanenishi (1)
  Chizu Yamashiro (1)
  Hirokazu Tanaka (1)
  Atsuko Shiota (1)
  Toshihiro Yanagihara (1)
  Toshiyuki Hata (1)
  
• 关键词：Wolf ; Hirschhorn syndrome ; three ; dimensional ; ultrasound ; prenatal diagnosis
• 刊名：Journal of Medical Ultrasonics
• 出版年：2008
• 出版时间：December 2008
• 年：2008
• 卷：35
• 期：4
• 页码：197-199
• 全文大小：305KB
• 参考文献：1. Copper HL, Hirschhorn K. Apparent deletion of short arms I chromosome (4 or 5) in a child with defects of midline fusion. Mamm Chrom Newsl 1961;4:14鈥?6.
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• 作者单位：Tharangrut Hanprasertpong (1)
  Uiko Hanaoka (1)
  Xia Zhang (1)
  Nobuhiro Mori (1)
  Eisuke Inubashiri (1)
  Kenji Kanenishi (1)
  Chizu Yamashiro (1)
  Hirokazu Tanaka (1)
  Atsuko Shiota (1)
  Toshihiro Yanagihara (1)
  Toshiyuki Hata (1)
  
  1. Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, Kagawa, 761-0793, Japan
  

文摘

We present a case of fetal Wolf-Hirschhorn syndrome diagnosed by conventional two-dimensional and three-dimensional ultrasonography. Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal edema, and suspected hypospadias. Three-dimensional ultrasonography clearly showed a flattening of the face, a high forehead, a broad nasal bridge continuing to the forehead, exophthalmos, and micrognathia (resembling the appearance of a Greek warrior helmet), but conventional two-dimensional ultrasonography did not depict these findings. Prenatal chromosomal analysis confirmed the diagnosis of Wolf-Hirschhorn syndrome [46XY, del(4)(p15.2)]. Here we demonstrate how three-dimensional ultrasonography provided a novel visual depiction of the facial dysmorphism, which helped substantially in prenatal counseling.